Information and Resources

Hemochromatosis Gene Test (HFE Test)

Guide

How It Feels

The blood sample is taken from a vein in
your arm. An elastic band is wrapped around your upper arm. It may feel tight.
You may feel nothing at all from the needle, or you may feel a quick sting or
pinch.

If you get a cheek test, you will feel gentle pressure on the inside of your cheek from the swab.

You may worry or feel nervous before you have the test or
while you are waiting for the results.

Risks

There is very little chance of a problem from
having a cheek test or from having a blood sample taken from a vein. If you have a blood test:

You may get a small bruise at the site. You can
lower the chance of bruising by keeping pressure on the site for several
minutes.

In rare cases, the vein may become swollen after the blood
sample is taken. This problem is called phlebitis. A warm compress can be used
several times a day to treat this.

Ongoing bleeding can be a
problem for people with bleeding disorders. Aspirin, warfarin (Coumadin), and
other blood-thinning medicines can make bleeding more likely. If you have
bleeding or clotting problems, or if you take blood-thinning medicine, tell
your doctor before your blood sample is taken.

Results

Hemochromatosis gene (HFE) testing is a
blood test used to check for hereditary hemochromatosis, a disorder that is
passed from a parent to a child (inherited) and causes the body to absorb too
much iron. This HFE gene test is usually not used to check for other, less
common causes of inherited hemochromatosis.

Hemochromatosis gene (HFE)

Normal:

Mutations (C282Y or H63D) are not found in the HFE gene.
Normal results are called negative.

Abnormal:

Mutations (C282Y or H63D) are found in the HFE gene test.
Abnormal results are called positive.

An abnormal test result does not mean that you have
hemochromatosis or that you will have hemochromatosis. It means that you have a
mutation in the HFE gene. Ask your doctor or a
genetic counselor to help you understand your test
results.